Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed
Joseph J. Grzymski, Gai Elhanan, E Smith, Chris J. Rowan, Nathan R. Slotnick, Shaun Dabe, Karen A. Schlauch, Robert W. Read, William J. Metcalf, Bruce Lipp, Harry Reed, Elissa Levin, Jau‐Tsuen Kao, Misha D. Rashkin, Johnathan Bowes, , James T. Lu
The paper finds that 90% of carriers of inherited disease variants are missed in current medical practice, highlighting the need for population-based genetic screening.
bioRxiv · May 27, 2019 · PreprintGenetics